Varaico: Literature-Extracted Genetic Variants

GIT2

99 papers

RefSeq Summary

This gene encodes a member of the GIT protein family, which interact with G protein-coupled receptor kinases and possess ADP-ribosylation factor (ARF) GTPase-activating protein (GAP) activity. GIT pro...

Pfam Domains

ArfGapaa 1–120UCSCPutative GTPase activating protein for Arf

Ank_2aa 135–229UCSCAnkyrin repeats (3 copies)

Ankaa 166–198UCSCAnkyrin repeat

GIT_SHDaa 266–294UCSCSpa2 homology domain (SHD) of GIT

GIT_SHDaa 330–358UCSCSpa2 homology domain (SHD) of GIT

GIT_CCaa 414–478UCSCGIT coiled-coil Rho guanine nucleotide exchange factor

Gene Aliases

HGNC Name

GIT ArfGAP 2

HGNC Alias Symbols

KIAA0148; PKL

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_057169.5

p.P55L

c.164C>T

Surrounding Variants

1 paper

NM_057169.5

p.P58L

c.173C>T

1 paper

NM_057169.5

p.S46A

c.136T>G

1 paper

NM_057169.5

p.C34G

c.100T>G

1 paper

NM_057169.5

p.E33K

c.97G>A

1 paper

NM_057169.5

p.T28M

c.83C>T

1 paper

NM_057169.5

p.P19fs

c.55_56fs

1 paper

NM_057169.5

p.V64A

c.191T>C

1 paper

NM_057169.5

p.S74S

c.222T>A

1 paper

NM_057169.5

p.I75I

c.225A>T

1 paper

NM_057169.5

p.S79P

c.235T>C

1 paper

NM_057169.5

p.N102S

c.305A>G

1 paper

NM_057169.5

p.D124V

c.371A>T